A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669883



Internal ID9935988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:86287086..86287170hg38UCSC Ensembl
Outerchr14:86287049..86287220hg38UCSC Ensembl
Innerchr14:86753430..86753514hg19UCSC Ensembl
Outerchr14:86753393..86753564hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5925073, essv5810267, essv5804219, essv5939509, essv6039862, essv5428110, essv6329999, essv6174445
SamplesHG00313, HG00137, NA18544, NA19657, NA19403, HG01073, HG00276, HG00125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669883
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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